Endocrine Abstracts

Introduction: Minimally invasive blood-borne circulating microRNAs might be used for the preoperative differentiation of adrenocortical carcinoma (ACC) and adrenocortical adenoma (ACA). Circulating hsa-miR-483-5p is so far the best microRNA biomarker of ACC. To the best of our knowledge, there have been no studies concerning the potential applicability of urinary has-miR-483-5p as a non-invasive biomarker of ACC and its correlation with plasma hsa-miR-483...

Background: Although the role of hypermethylation of certain tumor suppressor genes are known in pituitary adenomas little information is available regarding whole methylation-demethylation status and especially regarding its correlation with clinical parameters. High-performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) is an easy and accurate method to detect the level of methylcytosine (5 mC) and the demethylation intermedier hydroxymethylcytosine (5 hmC) ...

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder caused by 21-hydroxylase deficiency in 95% of all cases. Two main clinical subtypes: the classical (manifested after birth, or in early newborn period) and the late onset (LO) phenotype (manifested commonly during puberty). The lifelong glucocorticoid (GC) supplementation is essential in therapy of these patients. Response to GC therapy is individual and partly genetically determined....

Thyroid cancers represent ~1% of new cancer diagnoses. Thyroid malignancies are divided into papillary carcinomas (80%), follicular carcinomas (10%), medullary carcinomas (5–10%), anaplastic carcinomas (1–2%), and other rare tumours (primary thyroid lymphomas and primary thyroid sarcomas). The main therapeutic options are surgery (mainly total thyreoidectomy), radioiodine treatment, levothyroxine therapy (TSH suppression dose), others (external beam irradiation, chem...

Introduction: The human GNAS gene is coding for the alpha stimulatory subunit of the guanine nucleotide-binding protein. This G protein stimulates the activity of the adenylate cyclase enzyme which is in control of the production of various hormones in endocrine glands and also regulates bone development. Mutations in GNAS can lead to McCune Albright syndrome, progressive osseous heteroplasia or pseudohypoparathyroidism.Aim: Our aim was to find the genet...

Introduction: Multiple endocrine neoplasia (MEN) type 1 is a rare congenital disease with genetic background. The MEN-1 gene encodes menin protein, that acts as a tumor suppressor. Mutation of one allele and the inactivation of the other allele of this gene lead to clonal proliferation and to the development of tumors. The clinical manifestation of MEN type 1 is a combination of endocrine (parathyroid adenomas, entero-pancreatic neuroendocrine tumors, pituitary tumors) and non...

Background: Although pituitary adenomas are common endocrine neoplasms, the background of their pathogenesis has not clearly revealed. G1/S checkpoint alterations of the cell cycle have already been described in these tumours. MicroRNAs (miRs) which are small, non-coding RNA molecules, and posttranscriptionally regulate protein expression have also identified as potential pathogenic factors in certain cases. Our aim was to determine miR expression profile in pituitary adenomas...

Background: The pathogenesis of neural crest-derived tumours (phaeochromocytoma and neuroblastoma) is complex, and several studies applying functional genomics approaches have been performed in these tumours to date. However, the comparison of their genomic features has not been performed yet.Objective: We have carried out an in silico meta-analysis of altogether 1784 neuroblastoma and 351 phaeochromocytoma samples to establish similarities and differenc...

Objective: Several studies including ours have reported significant associations between polymorphisms (SNPs) of the HSD11B1 gene and bone metabolism. The aim of the present study was to explore systematically the potential associations between SNPs of the HSD11B1 gene and bone mineral density (BMD) in women with endogenous Cushing’s syndrome (CS) and healthy postmenopausal women.Patients and methods: A complex bioinformatical including haplotype an...

Background: Abnormal microRNAs (miRNAs) expression profiles have been recently associated with sporadic pituitary adenomas, suggesting that miRNAs can contribute to tumor formation. miRNAs are small noncoding RNAs which inhibit post-transcriptional expression of target mRNAs by binding to complementary sequences usually located in the 3′ untranslated region (3′UTR). However, the substantial lack of knowledge about miRNAs’ targets hinder full understanding of t...